A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114287



Internal ID19277119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33876073..33876151hg38UCSC Ensembl
Outerchr21:35248377..35248455hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956510, nssv3991633
SamplesKWS2, KWS1
Known GenesITSN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114287
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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